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Article

DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome.

Genetic testing and molecular biomarkers - 1 Apr 2013

Mendes Cristiani Cortez, Raimundo Aline Maria Zanchetta de Aquino, Oliveira Luciana Dutra, Zampieri Bruna Lancia, Marucci Gustavo Henrique, Biselli Joice Matos, Goloni-Bertollo Eny Maria, Eberlin Marcos Nogueira, Haddad Renato, Riccio Maria Francesca, Vannucchi Hélio, Carvalho Valdemir Melechco, Pavarino Érika Cristina

Abstract excerpt

BACKGROUND: Down syndrome (DS) results from the presence and expression of three copies of the genes located on chromosome 21. Studies have shown that, in addition to overexpression of the Cystathionine β-synthase (CBS) gene, polymorphisms in genes involved in folate/homocysteine (Hcy) metabolism may also influence the concentrations of metabolites of this pathway. AIM: Investigate the association between...

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Source

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Identifiers

PMID: 23421317
DOI: 10.1089/gtmb.2012.0293
PMCID: PMC3609604

Genes

DHFR
CBS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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